ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)

gnomAD frequency: 0.00003  dbSNP: rs1191790453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761291 SCV001998913 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868542 SCV002279322 uncertain significance Bardet-Biedl syndrome 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 127 of the BBS2 protein (p.Thr127Arg). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1312070). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002506789 SCV002813395 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539150 SCV003738200 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.380C>G (p.T127R) alteration is located in exon 3 (coding exon 3) of the BBS2 gene. This alteration results from a C to G substitution at nucleotide position 380, causing the threonine (T) at amino acid position 127 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004536294 SCV004115350 uncertain significance BBS2-related disorder 2024-05-13 no assertion criteria provided clinical testing The BBS2 c.380C>G variant is predicted to result in the amino acid substitution p.Thr127Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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